List of variants reported as pathogenic for Bardet-Biedl syndrome by Department of Neurology, Kindai University

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr)	rs144645349	0.00001
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg)	rs1282056614
NM_024649.5(BBS1):c.830+350_1110+217del

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